Evidence map›Paper›PMID 33209724›Full record

ArticleTranslational pediatrics2020

Novel deletion and 2397 G>T mutations of the

Yang Shen, Lei Zhang, Bosong Chen, Liangchao Dong, Yicheng Wang, Sun Wang

Open access · diamondAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Yang ShenDepartment of Orthopedics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Lei ZhangThe First Maternity and Infant Hospital Affiliated to Tongji University, Shanghai, China.
Bosong ChenDepartment of Orthopedics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Liangchao DongDepartment of Orthopedics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Yicheng WangDepartment of Orthopedics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Sun WangDepartment of Orthopedics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Shanghai Children's Hospital · CNShanghai Jiao Tong University · CNShanghai First Maternity and Infant Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary multiple exostoses (HME), a rare genetic pediatric disorder, has a peculiar pathogenic mechanism. The results of previous studies have shown that HME is associated with mutations of the

methodsVenous blood samples were collected from individuals with HME and their families. Exon sequencing and RT-PCR were performed to comprehensively analyze 11 exons of the

resultsThe deletion of exon 7 and the 2397 G>T mutation in exon 7 caused deletion mutation and nonsense mutation only in the HME patients. The mutations in exon 7 were tested and verified by Sanger sequencing. RT-PCR showed that the mRNA expression of

conclusionsThis study identified new mutation sites for the pathogenesis of HME and further clarified the relationship between HME and

Indexed as

deletion mutationexon sequencingEXT1 geneHereditary multiple exostoses (HME)

Identifiers

PMID33209724
PMCPMC7658772
OpenAlexW3089127409

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.